Grief & Loss

Trisomy 13 and robertsonian translocation

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Rach739 wrote:

Hi everyone, first of all I am so sorry that you find yourself on this board. This is not a fun place to be but it helps to have each others' support. Sharing my story in hopes that someone can provide me with some answers.I am 31 and my husband and I decided to start trying for a baby last fall. We got really lucky and got pregnant within 2 months of trying, and My due date was 3 weeks from my best friend's. Sadly, at our first ultrasound at 10 weeks we found out the baby had no heartbeat. It was just over 9 weeks. We were devastated to say the least! What got me through it was planning for the future and holding on to the idea that miscarriages are extremely common and it was most likely just a fluke. My doctor wanted to send the fetus in for testing since it was a 'later' miscarriage. Again, everyone said to be positive and not to worry. My doctor called yesterday and said the fetus tested positive for the chromosomal abnormality trisomy 13. I thought chromosomal issues were just random and the next would probably be ok, but she said it is highly likely that this is a genetic abnormality that I carry and we need to go in for genetic testing. She said this was due to robertsonian translocation and that I have a balanced inversion??? I have done some research but am extremely confused. My questions are: how does the doctor know this is genetic and that I carry it not my husband before I have the genetic test. Is she speculating or could this be determined from the fetus?Has anyone else been through this and have healthy children? My doctor told me it doesn't mean I can't have children but will need to do IVF to get a healthy one. We do not have money for this and I'm wondering if it's possible to get lucky with a good egg? I've heard it's basically a 50/50 shot. I don't want to go through multiple miscarriages but am willing to try again if I have a chance of having a heathy baby. Is it possible that all of my eggs carry this bad gene?Sorry for such a long post. I am desperate for someone to talk to who has been through this or knows more about it. My DH is being extremely supportive and positive but I'm having a hard time seeing the light at the end of the tunnel right now. Baby dust to all of you!-Rachxo

Unfortunately I can't offer insight into Trisomy 13, but I can share that I recently had a missed miscarriage due to Trisomy 14 two weeks ago. I am 36 years old and this was my first pregnancy; I found out at my first ultrasound at 11 weeks that the baby had stopped developing at around 6 weeks. Because of my age, I had done the cell-free DNA test prior to the ultrasound and got the results back just last week, which was positive for Trisomy 14. Although the fetus itself was not tested, due to what happened and the cell-free DNA test results, it seems most likely that the miscarriage was due to Trisomy 14.

My husband and I met with our genetic counselor, who explained to us that the occurance of Trisomy 14 is about 95% chance and 5% due to either me or my husband having chromosomal abnormalities. We had our blood drawn for karyotyping to check our genes, and are waiting for results.

Again, I don't know anything about Trisomy 13, but I do find it strange that your doctor can be so sure about you being the carrier without genetic testing. We have found the genetic counselors very helpful -- perhaps you might look into meeting with a genetic counselor, if you could get a referral for it? From my own Googling about trisomies and chromosomal abnormalities, I believe (though I am no scientist or expert) that it is usually still possible to conceive a healthy baby even if either one of the parents have a balanced translocation -- the odds are less, it might be hard, but possible.

I'm sorry I don't have direct insights to share -- but I wish you all the best!

Thank you for your response. I'm so sorry for what you are going through. I will pray that your test results come back as negative and you get a healthy baby the next time. We are doing genetic counseling and I'm anxious for the appointment. I would love to hear how things go for you if you want to keep me posted. Good luck!

Your doctor would have to have completed karyotyping on both you and your husband to know if either of you have a translocation. They don't know this based on the fetus alone. Translocations are quite rare, whereas chromosomal abnormalities that are flukes are fairly common. Are you sure your doctor wasn't just speculating? You should seek the opinion of a genetics doctor.

Hi @Rach739 - just wanted to update you that we received our test results back and both my husband's and my chromosomes are normal. How did your appointment go with genetic counseling? Wishing you all the best!

We just heard today. Turns out I am a carrier of robertsonian translocation 13;14. I've done a lot of research and odds are not against having a healthy baby eventually but most likely we have a long road ahead of us. Trying to stay as positive as possible. Congratulations on your test results. Must be a huge weight off your shoulders. Sending lots of baby dust your way!

I'm sorry to hear about your test results - but as you say, the odds are not against having a healthy baby, though it might just make the process harder. There are so many variables and random occurrences in every which direction when it comes to baby making, it seems. I send you lots of baby dust your way as well!!!

Sorry to hear about your story. If IVF is an option for you, you could have any embryos genetically tested before putting any back to ensure only healthy ones are transferred? I know IVF isn't an option for everyone, but just a thought to try & get around the issue. Wishing you all the best of luck with it. xo

Hello. I tested positive for a translocation of chromosomes 13 and 15 after my first miscarriage. They tested the baby after my D&C and found trisomy 13 as well before testing myself and my husband. They told me the same thing - that IVF with PGS testing of the embryos chromosomes would be our best option. We tried naturally again and miscarried again at 8 weeks. We ultimately decided to do IVF as my insurance helps pay for it. We transferred a healthy embryo but unfortunately miscarried that baby as well. We still have a couple more embryos to try with though.

On the other hand though my older sister has the same translation I have and she had a healthy baby with her first pregnancy. It can happen, just didn't for me.

I don't even know where to start, I got pregnant agin after my daughter and at my 20 weeks ultrasound they found abnormalities, it was also the day I found out we were having a boy. My heart was excited and scared. I lost my first son at 20 weeks. Where live they don't tell you anything, so at my next doctors appointment my doctor told me that he had an high chance of having trisomy 13. I knew what it was from having a friend who's son had it and he passed away a week before my ultrasound. He was 13 months old. She told me it's not 100% a sure thing, but his ears, eyes, mouth, all had signs of having it and he had dark spots in the back of his brain. I didn't know if I should start planning a funeral or his nursery.

Weeks went on, the most stressful weeks of my life. He kept getting bigger and bigger in my tummy, every movement I didn't feel I was scared, every hiccup that he didn't have, I thought the worse since half the time they pass away in the womb. At my 38 week ultrasound, which was my last ultrasound. I tired to get the lady to tell me if the spots were gone and if he was okay, of course she couldn't tell me anything. A few days after my ultrasound I went to my doctor. I was scared and nervous and I tired not to cry. But I prepared myself for the worst not the best.

I sit down and she comes in with a smile on her face and says. I don't know what happened or how it happened but the dark spots are gone, and his facial abnormalities don't seem to be as bad. Our ultrasounds are advancing and we see things now we never saw before. I was relieved that one thing wasn't wrong with him anymore but I'd have to wait until he was born to see if he was okay.

Six days after my due date I went into labor and he was born. Completely healthy, no signs of having trisomy 13. But looking at him I can see why they thought he did, his ears a little lower and the increase in the middle of his lip is over a little bit making it look like in an ultrasound, a hair lip. He is perfect, 8lbs 21 inches long, his hands were perfect, his feet.

My son is now a healthy 6.5 month old boy! I didn't want to do testing. If it was meant to be it was meant to be. I didn't want to terminate because what if, what if there was a chance he was fine and I'm so happy I took that chance. I would have loved him no matter what, and I know it was selfish of me but even if he did have it I wanted to bring into this world and hold him and love him and all I wanted him to ever experience was love. But now he gets to experience life!

This is my baby. I'm so so sorry for your loss. From what my doctor told me, it's very unlikely that you'll have another baby with it. I wish you the best of luck!

I know this is an older post but I didn't want to read and run. First of all, I am so sorry for your loss. I wanted to reach out because I know how lonely BT can feel. After 3 early MC, DH and I went to see an RE, and we found out that DH is a carrier of a reciprocal BT of long arms 5 and 9. I was initially devastated at the news, but have now had some time to process (this was in Jan). After speaking with the RE, a genetic counselor, and a geneticist we feel comfortable that an unbalanced baby will miscarry fairly early and there is no chance of carrying an unbalanced baby to term...so we decided to continue to try naturally for a while. I said I could go through it as many times as it takes, however I am currently 6w2d and had a disappointing scan today. Based on US and now slowly rising HCG, I am basically just waiting to MC again. Now I'm not sure how much more I can actually take and may go the IVF/PGD route. If you have not already spoken to a genetic counselor I would meet with one to speak about your specific BT. If there is no chance of carrying an unbalanced baby to term, and you think you can handle it, it is basically just a numbers game/luck of the draw when trying naturally. Although I have to say, with my first MC being at 7w3d and the next two happening almost right after I got my BFP, then now going through this again at 6 weeks, it definitely gets harder the farther along you are... You need to be honest with yourself how much you will be able to handle.

I also wanted to let you know there is a great BT support group on yahoo groups, as well as a secret FB support group where you can reach out to other women and men, maybe some with the same BT as yours. I may be mistaken but i think you're is a more common one. There are a lot of success stories with both natural conception and IVF/PGD. Also, it's not as rare as some think! They speculate that 1/500 people are carriers of BT.

Hopefully you find some of this information helpful, otherwise I'm just commiserating. Whatever you decide to do, i wish you the best of luck!

Hi rach, i'm also rach and i have rbt 13/14. Your doctor was wrong to tell you you had to try ivf as your 1st option. I had twin boys then two girl singleton pregnancies all in a row. Sadly that has been followed by 10 miscarriages. I'm 31 and i'm currently 7 weeks pregnant but haven't had a scan yet. I'm too scared. I wish i could go back to when it was easy for me. How are you doing? X

Thank you for all the support everyone. Thought I would send an update for anyone else who is struggling with Rbt13/14. I am currently nursing my 2 month old, perfectly healthy, non-carrier baby boy. He was born exactly one year from my first miscarriage due to Tri13. We feel so lucky that we only had to endure one loss before getting our rainbow baby, but know it could be a long road ahead when we try for a second. For now, we are just enjoying this amazing boy and trying not to think too much about the future. Good luck to anyone else going through this. Xoxo

I also have a Robertsonian translocation 13/14. As does my mother, brother and most likely my sister. Obviously all carriers. Another sister (surviving identical twin of premature birth) probably won't have kids for other reasons.

I did IVF as I couldn't get pregnant prior. The translocation was discovered in the process.

My mother and sister did not need IVF. Both had 5 pregnancies (that they know of). My mother only lost the 4th. My sister (who hasn't been tested for translocation) lost her first three. My brother has not started trying yet. He was diagnosed as was our mother when she was pregnant with him (via amniocentesis). He was the last of 5 pregnancies.

It's apparently carried by 1/1000 people and most don't ever know about it. My mother put it out of mind after her diagnosis - they were told nearly 30 years ago that it wasn't an issue unless both partners had the same thing. She remembered when I was diagnosed.

I have a friend (met through a local support group) who has a similar translocation. She now has a 2 year old and 4 month old identicals from her 8th and 9th pregnancies. It was definitely a matter of waiting for the good eggs for her. No IVF at all.

I am so happy to see this post. I had my first M/C (first pregnancy), at the end of August and I fell pregnant almost immediately after my D&C. I just got my hcg beta level back from the lab and it seems I am definitely pregnant. My first karyotype came back with a translocation on chromosome 8, and we were referred for genetic testing. Getting pregnant before going to see a geneticist has been terrifying, but I am hoping for my rainbow baby. This post has really helped give me hope.

Hi I have got rbt 13/14 and I've got 4 children but I have had 11 miscarriages all in a row. I feel like killing myself with every single one that dies. I'm currently 10 weeks (or so I think ) pregnant and I've got my 1st scan tomorrow. Feel sick at the thought of it. It's been passed down from my mums side and I'm the only member of my generation to have any children as it goes through the bloodline. I hope I haven't passed it on to my children because I would never forgive myself. As for the person that said this is a rare thing to have, it isn't

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